Linked Data
ClinVar Variation Id:
161800
ClinVar RCV Id:
RCV000149336
dbSNP Id:
rs150063446
ExAC:
9:8317921 G / A
gnomAD v2:
9-8317921-G-A
gnomAD v3:
9-8317921-G-A
gnomAD v4:
9-8317921-G-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.8317921G>A , CM000671.2:g.8317921G>A | GRCh38 |
| NC_000009.11:g.8317921G>A , CM000671.1:g.8317921G>A | GRCh37 |
| NC_000009.10:g.8307921G>A | NCBI36 |
| NG_033963.1:g.2299803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381196.9:c.5692C>T MANE Select | ENSP00000370593.3:p.Arg1898Cys | |
| ENST00000397617.8:c.4480C>T | ENSP00000380741.4:p.Arg1494Cys | |
| ENST00000651105.1:n.5070C>T | ||
| ENST00000355233.9:c.4474C>T | ENSP00000347373.5:p.Arg1492Cys | |
| ENST00000356435.9:c.5692C>T | ENSP00000348812.5:p.Arg1898Cys | |
| ENST00000381196.8:c.5692C>T | ENSP00000370593.3:p.Arg1898Cys | |
| ENST00000397606.7:c.4471C>T | ENSP00000380731.3:p.Arg1491Cys | |
| ENST00000397611.7:c.4462C>T | ENSP00000380735.3:p.Arg1488Cys | |
| ENST00000397617.7:c.4471C>T | ENSP00000380741.3:p.Arg1491Cys | |
| ENST00000486161.5:c.4471C>T | ENSP00000417093.1:p.Arg1491Cys | |
| ENST00000537002.5:c.4444C>T | ENSP00000440515.2:p.Arg1482Cys | |
| ENST00000540109.5:c.5692C>T | ENSP00000438164.1:p.Arg1898Cys | |
| NM_001040712.2:c.4462C>T | NP_001035802.1:p.Arg1488Cys | |
| NM_001171025.1:c.4471C>T | NP_001164496.1:p.Arg1491Cys | |
| NM_002839.3:c.5692C>T | NP_002830.1:p.Arg1898Cys | |
| NM_130391.3:c.4471C>T | NP_569075.2:p.Arg1491Cys | |
| NM_130392.3:c.4474C>T | NP_569076.2:p.Arg1492Cys | |
| NM_130393.3:c.4444C>T | NP_569077.2:p.Arg1482Cys | |
| XM_006716817.2:c.5743C>T | XP_006716880.1:p.Arg1915Cys | |
| XM_006716819.2:c.5737C>T | XP_006716882.1:p.Arg1913Cys | |
| XM_006716823.1:c.5695C>T | XP_006716886.1:p.Arg1899Cys | |
| XM_006716825.2:c.5692C>T | XP_006716888.1:p.Arg1898Cys | |
| XM_006716827.2:c.5635C>T | XP_006716890.1:p.Arg1879Cys | |
| XM_006716832.2:c.4471C>T | XP_006716895.1:p.Arg1491Cys | |
| XM_006716833.2:c.4471C>T | XP_006716896.1:p.Arg1491Cys | |
| XM_006716834.2:c.4471C>T | XP_006716897.1:p.Arg1491Cys | |
| XM_006716835.2:c.4462C>T | XP_006716898.1:p.Arg1488Cys | |
| XM_006716836.2:c.4459C>T | XP_006716899.1:p.Arg1487Cys | |
| XM_006716837.2:c.4444C>T | XP_006716900.1:p.Arg1482Cys | |
| XM_006716838.2:c.4441C>T | XP_006716901.1:p.Arg1481Cys | |
| XM_006716839.2:c.4429C>T | XP_006716902.1:p.Arg1477Cys | |
| XM_011517980.1:c.5749C>T | XP_011516282.1:p.Arg1917Cys | |
| XM_011517981.1:c.5749C>T | XP_011516283.1:p.Arg1917Cys | |
| XM_011517982.1:c.5746C>T | XP_011516284.1:p.Arg1916Cys | |
| XM_011517983.1:c.5746C>T | XP_011516285.1:p.Arg1916Cys | |
| XM_011517984.1:c.5740C>T | XP_011516286.1:p.Arg1914Cys | |
| XM_011517985.1:c.5737C>T | XP_011516287.1:p.Arg1913Cys | |
| XM_011517986.1:c.5731C>T | XP_011516288.1:p.Arg1911Cys | |
| XM_011517987.1:c.5722C>T | XP_011516289.1:p.Arg1908Cys | |
| XM_011517988.1:c.5722C>T | XP_011516290.1:p.Arg1908Cys | |
| XM_011517989.1:c.5719C>T | XP_011516291.1:p.Arg1907Cys | |
| XM_011517990.1:c.5710C>T | XP_011516292.1:p.Arg1904Cys | |
| XM_011517991.1:c.5707C>T | XP_011516293.1:p.Arg1903Cys | |
| XM_011517992.1:c.5692C>T | XP_011516294.1:p.Arg1898Cys | |
| XM_011517993.1:c.5665C>T | XP_011516295.1:p.Arg1889Cys | |
| XM_011517994.1:c.5626C>T | XP_011516296.1:p.Arg1876Cys | |
| XM_011517995.1:c.4516C>T | XP_011516297.1:p.Arg1506Cys | |
| XM_011517996.1:c.4513C>T | XP_011516298.1:p.Arg1505Cys | |
| XM_006716817.4:c.5743C>T | XP_006716880.1:p.Arg1915Cys | |
| XM_006716823.3:c.5695C>T | XP_006716886.1:p.Arg1899Cys | |
| XM_006716825.4:c.5692C>T | XP_006716888.1:p.Arg1898Cys | |
| XM_006716827.4:c.5635C>T | XP_006716890.1:p.Arg1879Cys | |
| XM_006716832.4:c.4471C>T | XP_006716895.1:p.Arg1491Cys | |
| XM_006716833.4:c.4471C>T | XP_006716896.1:p.Arg1491Cys | |
| XM_006716834.4:c.4471C>T | XP_006716897.1:p.Arg1491Cys | |
| XM_006716835.4:c.4462C>T | XP_006716898.1:p.Arg1488Cys | |
| XM_006716837.4:c.4444C>T | XP_006716900.1:p.Arg1482Cys | |
| XM_011517992.3:c.5692C>T | XP_011516294.1:p.Arg1898Cys | |
| XM_017014958.2:c.5752C>T | XP_016870447.1:p.Arg1918Cys | |
| XM_017014959.2:c.5752C>T | XP_016870448.1:p.Arg1918Cys | |
| XM_017014960.2:c.5752C>T | XP_016870449.1:p.Arg1918Cys | |
| XM_017014961.2:c.5752C>T | XP_016870450.1:p.Arg1918Cys | |
| XM_017014962.2:c.5752C>T | XP_016870451.1:p.Arg1918Cys | |
| XM_017014963.2:c.5749C>T | XP_016870452.1:p.Arg1917Cys | |
| XM_017014964.2:c.5749C>T | XP_016870453.1:p.Arg1917Cys | |
| XM_017014965.2:c.5749C>T | XP_016870454.1:p.Arg1917Cys | |
| XM_017014966.2:c.5743C>T | XP_016870455.1:p.Arg1915Cys | |
| XM_017014967.2:c.5740C>T | XP_016870456.1:p.Arg1914Cys | |
| XM_017014968.2:c.5737C>T | XP_016870457.1:p.Arg1913Cys | |
| XM_017014969.2:c.5734C>T | XP_016870458.1:p.Arg1912Cys | |
| XM_017014970.2:c.5734C>T | XP_016870459.1:p.Arg1912Cys | |
| XM_017014971.2:c.5725C>T | XP_016870460.1:p.Arg1909Cys | |
| XM_017014972.2:c.5725C>T | XP_016870461.1:p.Arg1909Cys | |
| XM_017014973.2:c.5722C>T | XP_016870462.1:p.Arg1908Cys | |
| XM_017014974.2:c.5722C>T | XP_016870463.1:p.Arg1908Cys | |
| XM_017014975.2:c.5713C>T | XP_016870464.1:p.Arg1905Cys | |
| XM_017014976.2:c.5710C>T | XP_016870465.1:p.Arg1904Cys | |
| XM_017014977.2:c.5710C>T | XP_016870466.1:p.Arg1904Cys | |
| XM_017014978.2:c.5707C>T | XP_016870467.1:p.Arg1903Cys | |
| XM_017014979.2:c.5704C>T | XP_016870468.1:p.Arg1902Cys | |
| XM_017014980.2:c.5665C>T | XP_016870469.1:p.Arg1889Cys | |
| XM_017014981.2:c.5626C>T | XP_016870470.1:p.Arg1876Cys | |
| XM_017014982.2:c.4519C>T | XP_016870471.1:p.Arg1507Cys | |
| XM_017014983.2:c.4516C>T | XP_016870472.1:p.Arg1506Cys | |
| XM_017014984.2:c.4507C>T | XP_016870473.1:p.Arg1503Cys | |
| XM_017014985.2:c.4504C>T | XP_016870474.1:p.Arg1502Cys | |
| XM_017014986.2:c.4501C>T | XP_016870475.1:p.Arg1501Cys | |
| XM_017014987.2:c.4486C>T | XP_016870476.1:p.Arg1496Cys | |
| XM_017014988.2:c.4483C>T | XP_016870477.1:p.Arg1495Cys | |
| XM_017014989.2:c.4477C>T | XP_016870478.1:p.Arg1493Cys | |
| XM_017014990.2:c.4474C>T | XP_016870479.1:p.Arg1492Cys | |
| XM_017014991.2:c.4474C>T | XP_016870480.1:p.Arg1492Cys | |
| XM_017014992.2:c.4465C>T | XP_016870481.1:p.Arg1489Cys | |
| XM_017014993.2:c.4462C>T | XP_016870482.1:p.Arg1488Cys | |
| XM_017014994.2:c.4459C>T | XP_016870483.1:p.Arg1487Cys | |
| XM_017014995.2:c.4459C>T | XP_016870484.1:p.Arg1487Cys | |
| XM_024447625.1:c.5731C>T | XP_024303393.1:p.Arg1911Cys | |
| XM_024447627.1:c.3490C>T | XP_024303395.1:p.Arg1164Cys | |
| NM_002839.4:c.5692C>T MANE Select | NP_002830.1:p.Arg1898Cys | |
| NM_001171025.2:c.4471C>T | NP_001164496.1:p.Arg1491Cys | |
| NM_001377946.1:c.4483C>T | NP_001364875.1:p.Arg1495Cys | |
| NM_001377947.1:c.4453C>T | NP_001364876.1:p.Arg1485Cys | |
| NM_001377958.1:c.5752C>T | NP_001364887.1:p.Arg1918Cys | |
| NM_001378058.1:c.5707C>T | NP_001364987.1:p.Arg1903Cys | |
| NM_130391.4:c.4471C>T | NP_569075.2:p.Arg1491Cys |